Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Oct;39(11):1026-1034.
doi: 10.1002/pd.5523. Epub 2019 Aug 9.

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

Marguerite Hureaux  1 , Selima Ben Miled  1   2 , Nicolas Chatron  3 , Aurelie Coussement  4 , Bettina Bessières  1 , Matthieu Egloff  1   5 , Charlotte Mechler  1 , Julien Stirnemann  2   5 , Vassilis Tsatsaris  5   6 , Giulia Barcia  7 , Catherine Turleau  1 , Yves Ville  2   5 , Ferechte Encha-Razavi  1 , Tania Attie-Bitach  1   5 , Valérie Malan  1   5
Affiliations
Case Reports

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

Marguerite Hureaux et al. Prenat Diagn. 2019 Oct.

Abstract

Objective: Neural tube defects (NTDs) are one of the most common congenital anomalies caused by a complex interaction of many genetic and environmental factors. In about 10% of cases, NTDs are associated with genetic syndromes or chromosomal anomalies. Among these, SOX3 duplication has been reported in some isolated cases. The phenotype associated with this microduplication is variable and includes myelomeningocele (MMC) in both sexes as well as hypopituitarism and cognitive impairment in males. In order to determine the prevalence of this anomaly in fetuses with MMC, a retrospective cohort of fetuses with MMC was analyzed by quantitative PCR (qPCR) targeting SOX3 locus.

Methods: The detection of an SOX3 microduplication by chromosomal microarray analysis (CMA) in two female fetuses with MMC prompted us to analyze retrospectively by qPCR this gene in a cohort of 53 fetuses with MMC.

Results: In addition to our two initial cases, one fetus harboring an Xq27.1q28 duplication that encompasses the SOX3 gene was detected.

Conclusion: Our data demonstrate that SOX3 duplication is a genomic imbalance involved in the pathogenesis of NTDs. In addition, our survey highlights the importance of CMA testing in fetuses with NTDs to enable genetic counseling upstream of any considerations of in utero fetal surgery.

PubMed Disclaimer

References

REFERENCES

    1. Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM. Spina bifida. Nat Rev Dis Primers. 2015;1(1):15007.
    1. Copp AJ, Greene NDE. Neural tube defects-disorders of neurulation and related embryonic processes. Wiley Interdiscip Rev Dev Biol. 2013;2(2):213-227.
    1. Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol. 2005;27(3):515-524.
    1. Hol FA, Schepens MT, van Beersum SE, et al. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics. 2000;69(2):174-181.
    1. Bauters M, Frints SG, van Esch H, et al. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A. 2014;164A(8):1947-1952.

Publication types

Substances

LinkOut - more resources